Achieving genetic diagnosis is at the core of management for inherited retinal degenerations (IRDs) for prognosis, family planning and access to novel therapies. Genetic panel testing can resolve ~70% of cases [1]. More comprehensive techniques including whole exome and whole genome sequencing (WES/WGS) are employed to explain unresolved pedigrees [2]. Inadvertent discovery of genetic findings unrelated to the testing indication is termed incidental, unsolicited, or secondary findings (SF) [3, 4]. SFs are discovered in 1.7% of WES-screened patients [5]. The American College of Medical Genetics (ACMG) has provided policy guidance regarding the management of SF, mandating pre-test counselling, designating 59 genes where SF have health-relevant actionable outcomes [3]. The ACMG stresses patient/guardian prerogative to opt-out of testing, but advises against clinicians altering the gene testing list at patient/guardian request to avoid SF.

With increased uptake of WES/WGS, SF “are highly likely, if not inevitable” [3, 4] and timing, manner and necessity of SF disclosure for research and clinical testing is debated. The Irish Health Service Executive released a national consent policy in 2019 (https://www.hse.ie/eng/about/who/qid/other-quality-improvement-programmes/consent/national-consent-policy.html), deferring to documented/signed patient preference regarding disclosure of SF; however, this opens a series of ethical dilemmas. Rising use of genotyping for clinical/research purposes, clearer guidance is required regarding SF. Here we outline an exemplar case in the ophthalmic genetics clinic.

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